The jejunal web or a rotation anomaly of the gut is frequently present, as are several cardiac endocardial cushion abnormalities. Mental disorders are present in about two thirds of cases. [journals.lww.com]

Rotation anomalies of the gut and cardiac abnormalities are frequently present. Pathogenesis remains obscure. Our patient was delivered at 33 weeks of gestation by cesarean section, and was jaundiced, with low birth weight and height. [ncbi.nlm.nih.gov]

Jaundice, present from the first week of life resolved by 7 weeks; however hepatosplenome- galy and abnormal liver function tests persisted. [docslide.com.br]

Jaundice, present from the first week oflife resolved by 7 weeks; however hepatosplenome-galy and abnormal liver function tests persisted. [documents.tips]

• Splenomegaly

  Syndrome: Human phenotypes related to Hardikar Syndrome: 31 (show all 29) # Description HPO Frequency HPO Source Accession 1 chorioretinal degeneration 31 occasional (7.5%) HP:0200065 2 failure to thrive 31 HP:0001508 3 hearing impairment 31 HP:0000365 4 splenomegaly [malacards.org]

  pigmentary retinopathy, portal hypertension (raised pressure within the portal system, including the portal vein and the tributary veins), pruritus, pulmonary artery stenosis (narrowing of the pulmonary artery), recurrent urinary tract infections, splenomegaly [xpertdox.com]

  Hepatomegaly was present in four patients and three had splenomegaly. [down-syndrome.org]

  […] stenosis Narrowing of lung artery 0004415 Recurrent urinary tract infections Frequent urinary tract infections Repeated bladder infections Repeated urinary tract infections Urinary tract infections Urinary tract infections, recurrent [ more ] 0000010 Splenomegaly [rarediseases.info.nih.gov]

• Poor Growth

  Other: failure to thrive poor growth Abdomen Liver: hepatomegaly portal hypertension portal inflammation fibrosis ductal plate malformations more Skin Nails Hair Skin: jaundice pruritus secondary to liver disease Genitourinary Kidneys: hydronephrosis [malacards.org]

  […] delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hepatomegaly Enlarged liver 0002240 Hydronephrosis 0000126 Hydroureter 0000072 [rarediseases.info.nih.gov]

• Fatigue

  The most common presenting symptoms were jaundice, fatigue, and weight loss. Hepatomegaly was present in four patients and three had splenomegaly. [down-syndrome.org]

  Research output : Contribution to journal › Article › Research › peer-review A discrete element modelling approach for fatigue damage growth in cemented materials Nguyen, N. H. T., Bui, H. [monash.edu]

  Deletion Syndrome Chromosome 4q- Syndrome chromosome 5q deletion syndrome Chromosome 6 Ring Syndrome Chromosome 7 Ring Syndrome Chromosome Xp11.3 Deletion Syndrome Chromosome Xq Duplication Syndrome chronic atrial and intestinal dysrhythmia chronic fatigue [rgd.mcw.edu]

• Coarctation of the Aorta

  Recently, at the age of 14 years, during an evaluation for refractory hypertension, she was found to have developed coarctation of the aorta that was treated with aortic angioplasty and stenting, dramatically improving her hypertension. [ncbi.nlm.nih.gov]

  Patients may also present with ventricular septal defects, atrial septal defects, patent ductus arteriosus and coarctation of the aorta. [en.wikipedia.org]

  Additional heart defects that can occur in Alagille syndrome include ventricular septal defects, atrial septal defects, patent ductus arteriosus, and coarctation of the aorta. [rarediseases.org]

• Failure to Thrive

  […] related to Hardikar Syndrome: 31 (show all 29) # Description HPO Frequency HPO Source Accession 1 chorioretinal degeneration 31 occasional (7.5%) HP:0200065 2 failure to thrive 31 HP:0001508 3 hearing impairment 31 HP:0000365 4 splenomegaly 31 HP:0001744 [malacards.org]

  […] to thrive, delayed growth, hearing impairment, hepatomegaly, hydronephrosis (swelling of a kidney due to a back-up of urine), hydroureter (dilation of the ureter), ectopic ureteric insertion, hyperbilirubinemia, intestinal malrotation, jaundice, mottled [xpertdox.com]

  If the stature is normal at birth, neonates soon present with growth delay and frequent failure to thrive of variable severity. Microcephaly is inconstant. [orpha.net]

• Nausea

  Pravin Soyam, 23, was in perfect health when he suddenly developed a chest pain, followed by vomiting and nausea. Then, he became completely disoriented. He died a day later, on 27 September, at a government hospital. [bbc.co.uk]

• Systolic Murmur

  She presented with acleft soft palate and a unilateral defect in the alveolarmargin, retinal pigmentation, a systolic murmur,bilateral hydronephrosis and hydroureters, obstruc-tive liver disease, and malrotation. [documents.tips]

  She presented with a cleft soft palate and a unilateral defect in the alveolar margin, retinal pigmentation, a systolic murmur, bilateral hydronephrosis and hydroureters, obstruc- tive liver disease, and malrotation. [docslide.com.br]

• Eczema

  Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy Growth Mental Deficiency Syndrome of Myhre GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY Growth Retardation, Small and Puffy Hands and Feet, and Eczema [rgd.mcw.edu]

• Hyperreflexia

  […] syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia [documentslide.com]

• Cesarean Section

  Our patient was delivered at 33 weeks of gestation by cesarean section, and was jaundiced, with low birth weight and height. On day 5 after birth, the patient underwent Ladd's surgery for intestinal malrotation. [ncbi.nlm.nih.gov]

  CASE REPORT The patient is a girl delivered at 33 weeks of gestation by cesarean section to a gravid I, para I, abortive 0, 20-year-old healthy, type O-blood group mother. [journals.lww.com]

Here we report on a 31-year-old male patient who presented with elevated serum alkaline phosphatase and gamma-glutamyl transpeptidase, and was diagnosed with AGS associated with the JAG1 mutation after a comprehensive workup. [medworm.com]

• Gastric Varices

  Gastroscopy showedsmall esophageal and moderate gastric varices. Shehad several courses of sclerotherapy together withcimetidine, with resolution of the esophageal vari-ces. [documents.tips]

  Gastroscopy showed small esophageal and moderate gastric varices. She had several courses of sclerotherapy together with cimetidine, with resolution of the esophageal vari- ces. [docslide.com.br]

• Bilirubin Increased

  Beta-glucuronidase deconjugates intestinal bilirubin, increasing its ability to be absorbed (ie, increasing the enterohepatic circulation). [emedicine.medscape.com]

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments. [books.google.com]

22 years experience Orthopedist - provides Carpal Tunnel Syndrome Treatment ₹ 750 ( Consultation Cost ) Visits on Mon, 30 Apr MBBS, MS - Orthopaedics 28 years experience Orthopedist - provides Carpal Tunnel Syndrome Treatment 82 % ( 11 votes ) ₹ 650 [practo.com]

We sought to define the efficacy of treatments for children with achalasia with and without triple A syndrome. [repository.up.ac.za]

Prognosis - Hardikar syndrome Not supplied. Treatment - Hardikar syndrome Not supplied. Resources - Hardikar syndrome Not supplied. [checkorphan.org]

Prognosis Although morbidity is significant, prognosis is quite favorable. Life expectancy is somewhat dependent on cardiac and immunologic complications. The documents contained in this web site are presented for information purposes only. [orpha.net]

"Features of Alagille syndrome in 92 patients: frequency and relation to prognosis". Hepatology. 29 (3): 822–9. doi : 10.1002/hep.510290331. PMID 10051485. ^ Sijmons RH (2008). "Encyclopaedia of tumour-associated familial disorders. [en.wikipedia.org]

Heart problems and the potential for infection or renal failure, however, make the prognosis for an average life span uncertain [5] [10]. [eyewiki.aao.org]

Hardikar syndrome is a rare disorder of unknown etiology. Features of the syndrome are manifold with a predominance of liver and renal involvement. [ncbi.nlm.nih.gov]

Synonyms cholestasis - pigmentary retinopathy - cleft palate|hardikar syndrome Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]

Hardikar}, journal={American Journal of Medical Genetics Part A}, year={2008}, volume={146A} } Hardikar syndrome is a rare disorder of unknown etiology. Features of the syndrome are manifold with a predominance of liver and renal involvement. [semanticscholar.org]

Cancer Epidemiology and Prevention Biomarkers 25 (3), 559-559, 201642016 [scholar.google.com]

Our study provides a snapshot of the epidemiology of BA in Saudi Arabia that is characterized by late referral to pediatric gastroenterologists and poor outcome without LT. [medworm.com]

Summary Epidemiology KS was initially described in Japan, but has now been observed in all ethnic groups. Prevalence estimation is approximately 1:32,000. Clinical description KS has a wide and variable clinical spectrum. [orpha.net]

Efforts are ongoing to uncover the epidemiology and etiology of this condition. [frontiersin.org]

Pathophysiology [ edit ] JAG1 encodes a ligand critical to the notch gene–signaling cascade that is important in fetal development. [en.wikipedia.org]

‘Chronic obstructive pulmonary disease and lung cancer: underlying pathophysiology and new therapeutic modalities’. Drugs.2018. Vol 78(16) page 1717-40. 20. [hopeforhearts.com.au]

The role of microRNAs in coronary artery disease: from pathophysiology to diagnosis and treatment. Atherosclerosis. 2015;241(2):624–633. Google Scholar | Crossref | Medline 4. Deftereos, S, Giannopoulos, G, Papoutsidakis, N, et al. [journals.sagepub.com]

Pathophysiology of gastro-esophageal reflux disease: a role for mucosa integrity? Neurogastroenterol Motil 2013; 25: 783-799. Helm JF, Dodds WJ, Hogan WJ, Soergel KH, Egide MS, Wood CM. Acid neutralizing capacity of human saliva. [intramed.net]

Cancer Epidemiology and Prevention Biomarkers 25 (3), 559-559, 201642016 [scholar.google.com]

Prevention - Hardikar syndrome Not supplied. Diagnosis - Hardikar syndrome The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Hardikar syndrome. [checkorphan.org]

To prevent irreversible, extensive tissue damage and permanent disability fasciotomy must be performed immediately after the diagnosis is made. [thieme-connect.com]

[…] graft rejection Azathioprine: synthetic drug that suppresses the body's immune responses, widely used during and after transplant surgery to prevent rejection of the transplanted organ. [down-syndrome.org]

Hot water fermentation will help Knee cap will also help to prevent the damaged cartilages. If your pain is more in the distal joints, ie. [lybrate.com]